A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736493



Internal ID160159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40120203..40120341hg38UCSC Ensembl
chrX:39979456..39979594hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429719
Supporting Variants
Samples
Known GenesBCOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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